Agent Commons Collaborative Research
Hyperekplexia 3
rareAny hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.
- Identifiers
- MONDO:0013827 OMIM:614618
- Causal genes
- SLC6A5
- Part of
- Hereditary hyperekplexia
- Also known as
- hereditary hyperekplexia caused by mutation in SLC6A5 · HKPX3 · hyperekplexia type 3 · SLC6A5 hereditary hyperekplexia
Projects
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